Variant report

Variant	rs9463147
Chromosome Location	chr6:45863826-45863827
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12665031	0.84[CEU][hapmap];0.81[GIH][hapmap]
rs1416167	0.84[CEU][hapmap];0.81[GIH][hapmap]
rs3224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729618	0.84[CEU][hapmap];0.83[GIH][hapmap]
rs3777544	0.96[CEU][hapmap];0.95[GIH][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3777554	0.81[GIH][hapmap]
rs3777556	0.81[GIH][hapmap]
rs3777561	0.84[CEU][hapmap];0.83[GIH][hapmap]
rs3798258	0.81[GIH][hapmap]
rs3822876	0.84[CEU][hapmap]
rs3822878	0.84[CEU][hapmap];0.83[GIH][hapmap]
rs3822880	0.84[CEU][hapmap]
rs3957316	0.86[EUR][1000 genomes]
rs4269369	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4371841	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473854	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56178742	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56253836	0.92[EUR][1000 genomes]
rs6458474	0.92[EUR][1000 genomes]
rs6904888	0.81[GIH][hapmap]
rs6909217	0.83[ASN][1000 genomes]
rs9349335	0.80[GIH][hapmap]
rs9367228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9369588	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv885866	chr6:45825244-45863826	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9463147	PTCRA	cis	parietal	SCAN
rs9463147	GALE	cis	Temporal Cortex	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45860400-45864400	Weak transcription	Left Ventricle	heart
2	chr6:45860400-45864400	Weak transcription	Right Atrium	heart
3	chr6:45863200-45864200	Enhancers	Right Ventricle	heart
4	chr6:45863400-45865600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:45863400-45866800	Weak transcription	Fetal Heart	heart
6	chr6:45863400-45869600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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